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Hypogonadotropin eunuchoidism or Kallman's syndrome is the most common form of isolated gonadotropin deficiency. Recent studies demonstrate that GnRH neurons originate in olfactory tissues and migrate to the hypothalamus. Thus, hypogonadism and anosmia are classic presentations for this disorder.
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Representation of Kallman's Syndrome.
In Kallman's Syndrome of the x linked variety
a cell adhesion protein which participates in
the migration of GnRH neurons from the medial
olfactory bulb to the hypothalamus is absent.
This protein is encoded by a gene on the short
arm of the X chromosome.
Credits: C. Matthew Peterson M.D. |
This disorder of sexual differentiation results in delayed puberty and primary amenorrhea. Deletions of the Kallman's gene (KALIG-1) on the short arm of X have been identified with subjects demonstrating an X-linked form of Kallman's syndrome. This gene encodes a cell adhesion protein which participates in the migration of the GnRH neurons from the medial olfactory placode to the hypothalamus.
